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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 15"
Page 1
Clinical experience with non-invasive prenatal screening for single-gene disorders.
Mohan P, Lemoine J, Trotter C, Rakova I, Billings P, Peacock S, Kao CY, Wang Y, Xia F, Eng CM, Benn P. Mohan P, et al. Ultrasound Obstet Gynecol. 2022 Jan;59(1):33-39. doi: 10.1002/uog.23756. Ultrasound Obstet Gynecol. 2022. PMID: 34358384 Free PMC article.
OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders (SGD) with a combined population incidence of 1 in 600. METHODS: Cell-free fetal DNA isolated from maternal plasma samples accessioned from 1 …
OBJECTIVE: To assess the performance of a non-invasive prenatal screening test (NIPT) for a panel of dominant single-gene disorders ( …
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, mostly truncating variants in KMT2E. It was first described by O'Donnell-Luria et al in 2019 in a cohort of 38 patients. Clinical features …
BACKGROUND: O'Donnell-Luria-Rodan syndrome (ODLURO) is an autosomal-dominant neurodevelopmental disorder caused by pathogenic, …
X-Linked intellectual disability update 2022.
Schwartz CE, Louie RJ, Toutain A, Skinner C, Friez MJ, Stevenson RE. Schwartz CE, et al. Am J Med Genet A. 2023 Jan;191(1):144-159. doi: 10.1002/ajmg.a.63008. Epub 2022 Oct 27. Am J Med Genet A. 2023. PMID: 36300573
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update in 2017. ...Although the pace of …
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate th …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear and one mitochondrial), including one with concurrent triple repeat disorder (fragile X syndrome), and 19 had chromosomal disorders. ...Nearly …
RESULTS: Of 124 probands (60% boys, history of consanguinity in 15%) with genetic IESS, 105 had single gene disorders (104 nuclear an …
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X. Zhao M, et al. Mol Diagn Ther. 2019 Dec;23(6):781-789. doi: 10.1007/s40291-019-00426-w. Mol Diagn Ther. 2019. PMID: 31630374
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritance, and only presented with spastic paraplegia, with no signs of intellectual disability, nystagmus, or obesity. CONCLUSION: Ou …
Differing substantially from previous reports for KIDINS220 variants, our study family exhibited autosomal dominant inheritanc …
Tau PET Imaging for Staging of Alzheimer's Disease in Down Syndrome.
Rafii MS. Rafii MS. Dev Neurobiol. 2019 Jul;79(7):711-715. doi: 10.1002/dneu.22658. Epub 2018 Dec 16. Dev Neurobiol. 2019. PMID: 30536948 Review.
The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatial pattern of their accumulation in relation to symptomatology. Recent work indicates that amyloid pathology develops …
The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal asse …
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...The most common inheritance patterns in this outbred Chinese population were au …
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …
Uniparental disomies 7 and 14.
Hoffmann K, Heller R. Hoffmann K, et al. Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):77-100. doi: 10.1016/j.beem.2010.09.004. Best Pract Res Clin Endocrinol Metab. 2011. PMID: 21396576 Review.
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unmasking of an autosomal-recessive disease to presentation as a syndromic imprinting disorder. ...Findings in maternal UPD(14) ("Temple" …
The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. Phenotypes range from unapparent to unma …
Triple Genetic Diagnosis in a Patient with Late-Onset Leukodystrophy and Mild Intellectual Disability.
Pasquetti D, Gazzellone A, Rossi S, Orteschi D, L'Erario FF, Concolino P, Minucci A, Dionisi-Vici C, Genuardi M, Silvestri G, Chiurazzi P. Pasquetti D, et al. Int J Mol Sci. 2023 Dec 29;25(1):495. doi: 10.3390/ijms25010495. Int J Mol Sci. 2023. PMID: 38203665 Free PMC article.
The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray analysis (CMA), revealed a triple diagnosis: autosomal dominant polycystic kidney disease (ADPKD) due to a pathogenic variant, c.2152C>T-p....(Leu48Ser) in the PAH g …
The diagnostic process, which included clinical exome sequencing (CES) and chromosomal microarray analysis (CMA), revealed a triple diagnosi …
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex.
Ng SY, Luk HM, Hau EW, Cheng SS, Yu KP, Ho S, Mok MT, Lo IF. Ng SY, et al. Eur J Med Genet. 2022 Oct;65(10):104573. doi: 10.1016/j.ejmg.2022.104573. Epub 2022 Jul 31. Eur J Med Genet. 2022. PMID: 35918040
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed mutation analyses on 123 Chinese patients with "definite TSC" according to the latest diagnostic criteria. Pathogenic / likely-pathogenic va …
Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous disorder with autosomal dominant inheritance. We performed …
34 results